Evidence map›Paper›PMID 41614952›Full record

ReviewCurrent issues in molecular biology2026

Genetic Associations with Pectus Excavatum: A Systematic Review.

Redoy Ranjan, Nafiz Imtiaz, Benjamin Waterhouse, Ian Paul, Annemarie Brunswicker, Joel Dunning

Abstract readReview
In one paragraph

Review in Current issues in molecular biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Review
  2. Genetic interaction betweenbioRxiv : the preprint server for biology · 2026
    Article
  3. Genetic interaction betweenResearch square · 2026
    Article
  4. Article
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Redoy RanjanDepartment of Cardiothoracic Surgery, James Cook University Hospital, Middlesbrough TS4 3BW, UK.
Nafiz ImtiazDepartment of Biological Sciences, Royal Holloway University of London, London TW20 0EX, UK.ORCID 0009-0001-5593-4455
Benjamin WaterhouseDepartment of Cardiothoracic Surgery, James Cook University Hospital, Middlesbrough TS4 3BW, UK.
Ian PaulDepartment of Cardiothoracic Surgery, James Cook University Hospital, Middlesbrough TS4 3BW, UK.
Annemarie BrunswickerDepartment of Cardiothoracic Surgery, James Cook University Hospital, Middlesbrough TS4 3BW, UK.
Joel DunningDepartment of Cardiothoracic Surgery, James Cook University Hospital, Middlesbrough TS4 3BW, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPectus excavatum (PE) is the most common congenital chest wall deformity, affecting approximately 1 in 400 live births. Although familial clustering supports a genetic contribution, the molecular basis of PE remains poorly defined. This systematic review synthesizes existing evidence on genetic variants associated with PE to guide future genome-wide association studies (GWAS) and Mendelian randomization (MR) analyses.

methodsA comprehensive systematic search was conducted across all electronic databases, including Google Scholar, PubMed/MEDLINE, Web of Science, and arXiv, from inception to November 2025. Nine studies met the inclusion criteria. The search strategy utilized the terms "pectus excavatum", "genetic variants", "SNPs", and "GWAS", combined with Boolean operators. Eligible studies reported genetic associations, family-based analyses, or mechanistic investigations. The Newcastle-Ottawa Scale was used to assess study quality.

resultsNo population-level GWAS of isolated PE was identified. Fourteen genetic loci were reported across diverse study designs, including family-based exome sequencing (

conclusionsCurrent genetic evidence for PE is largely derived from rare variants and family-based studies, with no population-level GWAS available. This critical gap limits causal inference, underscoring the urgent need for large-scale international GWAS to identify common variants and clarify the genetic architecture of PE.

Indexed as

cartilagechest wall deformitycollagengeneticsgenome-wide association studyGWASpectus excavatumsystematic review

Identifiers

PMID41614952
PMCPMC12839692

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.